Medical Advertisement Ministry of Health Appl.No. CB62039 – valid upto 12.06.2019



Genetic Testing

Genetic Testing

Genetic Testing and Panels

Genetic Testing

Genetic testing is most often done to confirm the diagnosis of a syndrome or disease, which is known to be caused by a genetic alteration.

These genetic changes can either be hereditary or occur de novo (for the first time). Often, in cases of hereditary genetic alterations, the syndrome/symptoms are known in the family and one or more relatives may have previously been diagnosed with this genetic change. Genetic testing allows the patient to confirm his/her diagnosis. In cases of de novo genetic alterations, the genetic changes are not passed down by the parents, but are present for the first time in the patient. Usually, in these cases, the doctor/geneticist will suspect a syndrome based on the symptoms and other tests, and order the genetic test for confirmation.

Gene Panel Sequencing

Genetic panel means that several genes known to be associated with a certain syndrome are sequenced simultaneously. Depending on the syndrome/symptoms, the number of associated genes may vary. Thus, the panels have varying numbers of genes included. This approach is most often used if the syndrome/symptoms are not known in the family and do not point to one specific syndrome. In a genetic panel, many genes involved in specific or unspecific symptoms can be tested at once.

Whole Exome Sequencing
Trio Exome Sequencing
Family Member Testing
Single Gene Sequencing
MLPA (Multiplex ligation-dependent probe amplification)
Karyotyping
FISH
aCGH – Array comparative genomic hybridization
Genetic Counseling (Pre-Test and Post-Test)

All kinds of genetic testing are available upon request. Please send us an email with the name of the syndrome/disorder or gene and we will send you the details (price, TAT, additional info) of the required test.

 

Gene Panel Sequencing
Audiology/Hearing Loss Gene Panels
  • Hearing Loss, mitochondrial, including aminoglycoside ototoxicity
  • Hearing Loss, nonsyndromic, autosomal dominant and X-linked
  • Hearing Loss, nonsyndromic, autosomal recessive and X-linked
  • Syndromic Hearing Loss Panel
Blood Disorder Gene Panels
  • Bone Marrow Failure Syndrome Panel
  • Erythrocytes, Anemia Panel
  • Hemochromatosis Panel
  • Thrombocytopenia Panel
  • VB12-dependent Megaloblastic Anemia Panel
Cardiology Gene Panels
  • Aorta Panel
  • Arrhythmia Panel
  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel
  • Atrial Fibrillation Panel
  • Brugada Syndrome Panel
  • Cardiomyopathy Panel
  • Cardiomyopathy with onset in neonatal period, infancy or childhood panel
  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel
  • Comprehensive Cardiology Panel
  • Congenital Structural Heart Disease Panel
  • Dilated Cardiomyopathy (DCM) Panel
  • Ehlers-Danlos Syndrome Panel
  • Hereditary Hemorrhagic Telangiectasia (HHT) Panel
  • Heterotaxy and Situs Inversus Panel
  • Hypercholesterolemia and Hyperlipoproteinemia Panel
  • Hyperlipidemia Core Panel
  • Hyperlipidemia Panel
  • Hypertrophic Cardiomyopathy (HCM) Panel
  • Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel
  • Liddle Syndrome Panel
  • Long QT Syndrome (LQTS) Panel
  • Marfan Syndrome Panel
  • Neuromuscular disease with Cardiomyopathy Panel
  • Noonan Syndrome Panel
  • Pulmonary Artery Hypertension (PAH) Panel
  • RASopathies Panel
  • Short QT Syndrome (SQTS) Panel
Ciliopathies Gene Panels
  • Bardet-Biedl Syndrome Panel
  • Joubert Syndrome Panel
  • Primary Ciliary Dyskinesia Panel
  • Senior-Loken Syndrome Panel
Connective Tissue Disease Gene Panels
  • Stickler syndrome Panel
  • Ehlers-Danlos Syndrome, Marfan Syndrome, Loeys-Dietz Syndrome, Aortic Aneurysm and Differential Diagnoses Panel
Dermatology Gene Panels
  • Adams-Oliver Syndrome Panel
  • Albinism Panel
  • Cutis Laxa Panel
  • Dyskeratosis Congenita Panel
  • Ectodermal dysplasia, selective tooth agenesis, richothiodystrophy, and hypotrichosis panel
  • Ehlers-Danlos Syndrome Panel
  • Epidermolysis Bullosa Panel
  • Hereditary Acrodermatitis Enteropathica Panel
  • Hereditary Melanoma and Skin Cancer Panel
  • Hermansky-Pudlak Syndrome Panel
  • Hyperpigmentation: Dowling-Degos disease and related disorders panel
  • Ichthyosis, palmoplantar keratoderma, and related disorders of cornification panel
  • Lymphedema Panel
  • Neurofibromatosis Panel
  • Oculocutaneous albinism panel
  • Pachyonychia Congenita Panel
  • Palmoplantar Keratoderma Panel
  • Photodermatosis: Xeroderma pigmentosum, Cockayne syndrome, COFS syndrome and related disorders panel
  • Progeria and Progeroid Syndromes Panel
  • Syndromic albinism and related disorders: Hermansky-Pudlak syndrome, Griscelli syndrome, Waardenburg syndrome panel
  • Tuberous Sclerosis Panel
  • Vascular disorders: hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, association with MoyaMoya, and related disorders panel
  • Waardenburg Syndrome Panel
  • Xeroderma Pigmentosum Panel
Ear, Nose & Throat Gene Panels
  • Alport Syndrome Panel
  • Branchio-Oto-Renal (BOR) Syndrome Panel
  • Comprehensive Hearing Loss and Deafness Panel
  • Hereditary Hemorrhagic Telangiectasia (HHT) Panel
  • Non-Syndromic Hearing Loss Panel
  • Pendred Syndrome Panel
  • Stickler Syndrome Panel
  • Syndromic Hearing Loss Panel
  • Usher Syndrome Panel
  • Waardenburg Syndrome Panel
Epilepsy & Brain Development Disorders Gene Panels
Epilepsy
  • Epilepsy and Developmental Delay (including Epileptic Encephalopathies) Panel
  • Familial and Idiopathic Epilepsy Panel
  • GPI anchor deficiency with or without Hyperphosphatasia Panel
  • Hyperekplexia Panel
  • Metabolic/Mitochondrial Epilepsy Panel
  • Migraine Panel
  • Progressive Myoclonus Epilepsy and Neuronal Ceroid Lipofuscinosis Panel
Brain Development Disorders
  • Aicardi-Goutières Syndrome Panel
  • Cerebral Microangiopathies Panel
  • Coffin-Siris Syndrome Panel
  • Cornelia de Lange Syndrome Panel
  • Holoprosencephaly Spectrum Panel
  • Joubert Syndrome Panel
  • Leukodystrophy/Leukoencephalopathy Panel
  • Leukodystrophy/Leukoencephalopathy and Differential Diagnoses Panel
  • Macrocephaly Panel
  • Microcephaly and Pontocerebellar Hypoplasia Panel
  • Neuronal Migration Disorders Panel
Endocrinology Gene Panels
  • Abnormal Genitalia/Disorders of Sex Development Panel
  • Comprehensive Monogenic Diabetes Panel
  • Congenital Adrenal Hyperplasia Panel
  • Glucocorticoid Deficiency Panel
  • Hyperlipidemia Panel
  • Hyperparathyroidism Panel
  • Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel
  • Hypomagnesemia Panel
  • Hypothyroidism and Resistance to Thyroid Hormone Panel
  • Kallmann Syndrome Panel
  • MODY Panel
  • Monogenic Obesity Panel
  • Premature Ovarian Failure Panel
Gastroenterology Gene Panels
  • Cholestasis Panel
  • Congenital Diarrhea Panel
  • Congenital Hepatic Fibrosis Panel
  • Gastrointestinal Atresia Panel
  • Hirschsprung Disease Panel
  • Pancreatitis Panel
  • Polycystic Liver Disease Panel
Hematology Gene Panels
  • Anemia Panel
  • Bleeding Disorder/Coagulopathy Panel
  • Bloom Syndrome Panel
  • Bone Marrow Failure Syndrome Panel
  • Coagulation Factor Deficiency Panel
  • Comprehensive Hematology Panel
  • Congenital Neutropenia Panel
  • Diamond-Blackfan Anemia Panel
  • Dyskeratosis Congenita Panel
  • Fanconi Anemia Panel
  • Hemophagocytic Lymphohistiocytosis Panel
  • Hereditary Cancer Panel
  • Hereditary Leukemia Panel
  • Hermansky-Pudlak Syndrome Panel
  • Platelet Function Disorder Panel
  • Red Blood Cell Membrane Disorder Panel
  • Thrombocytopenia Panel
Hereditary Cancer Gene Panels
  • Hereditary Breast and Gynecological Cancer Panel
  • Hereditary Breast Cancer High Risk Panel
  • Hereditary Cancer High Risk Panel
  • Hereditary Colorectal Cancer Panel
  • Hereditary Endocrine Cancer Panel
  • Hereditary Gastrointestinal Cancer Panel
  • Hereditary Leukemia Panel
  • Hereditary Lung Cancer Panel
  • Hereditary Melanoma and Skin Cancer Panel
  • Hereditary Pancreatic Cancer Core Panel
  • Hereditary Pancreatic Cancer Panel
  • Hereditary Paraganglioma-Pheochromocytoma Panel
  • Hereditary Pediatric Cancer Panel
  • Hereditary Renal Cancer Panel
  • Neurofibromatosis Panel
  • Tuberous Sclerosis Panel
  • Xeroderma Pigmentosum Panel
Immunology Gene Panels
  • Antibody Deficiency Panel
  • Autoinflammatory Syndrome Panel
  • Bone Marrow Failure Syndrome Panel
  • Chronic Granulomatous Disease Panel
  • Complement System Disorder/Compliment Deficiencies Panel
  • Congenital Neutropenia Panel
  • Defects of Phagocytes Panel
  • Dyskeratosis Congenita Panel
  • Hemophagocytic Lymphohistiocytosis Panel
  • Immune Dysregulation Panel
  • Innate Immunity defects Panel
  • Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Panel
  • Primary Immunodeficiency Panel
  • Severe Combined Immunodeficiency Panel
Liver Disease Gene Panels
  • Familial Cholestasis Panel
  • Lysosomal Storage Disorders Panel
  • Hypercholanemia and defects of bile acid synthesis panel
  • Recurrent acute liver failure panel
  • Impairments of transport in hepatocytes and cholangiocytes panel
  • Hepatic mitochondriopathies panel
  • Impairments of transport in hepatocytes and cholangiocytes panel
  • Impairments of organogenesis panel
  • Metabolic disorders of hepatocytes, including Tyrosinemia, Glycogen storage diseases,Hyperammonemia, Shwachman-Diamond syndrome, Disorder of fatty acid oxidations and Peroxisomal diseases
Malformations Gene Panels
  • 3-M Syndrome/Primordial Dwarfism Panel
  • Adams-Oliver Syndrome Panel
  • Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel
  • Arthrogryposes Panel
  • Brachydactyly/Syndactyly Panel
  • Cerebral Cavernous Malformation Panel
  • Chondrodysplasia Punctata Panel
  • Cleft Lip/Palate and Associated Syndromes Panel
  • Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel
  • Comprehensive Short Stature Syndrome Panel
  • Comprehensive Skeletal Dysplasias and Disorders Panel
  • Cornelia de Lange Syndrome Panel
  • Craniosynostosis Panel
  • Exostosis and Related Disorders Panel
  • Facial Dysostosis and Related Disorders Panel
  • Gastrointestinal Atresia Panel
  • Heterotaxy and Situs Inversus Panel
  • Hirschsprung Disease Panel
  • Holoprosencephaly Panel
  • Kabuki Syndrome Panel
  • Limb Malformations Panel
  • Lissencephaly Panel
  • Lymphatic Malformations and Related Disorders Panel
  • Macrocephaly/Overgrowth Syndrome Panel
  • Meier-Gorlin Syndrome Panel
  • Metaphyseal Dysplasia Panel
  • Microcephaly and Pontocerebellar Hypoplasia Panel
  • Micromelic Dysplasia Panel
  • Neurofibromatosis Panel
  • Neuronal Migration Disorder Panel
  • Osteogenesis Imperfecta Panel
  • Osteopetrosis and Dense Bone Dysplasia Panel
  • Polymicrogyria Panel
  • Seckel Syndrome Panel
  • Septo-Optic Dysplasia Panel
  • Short Rib Dysplasia/Asphyxiating Thoracic Dysplasia Panel
  • Skeletal Dysplasia with Abnormal Mineralization Panel
  • Skeletal Dysplasias Core Panel
  • Spondylometaphyseal/Spondyloepi-(meta)-physeal Dysplasia Panel
  • Vascular Malformations Panel
Metabolic Disorders Gene Panels
  • 3-Methylglutaconic Aciduria Panel
  • Aicardi-Goutières Syndrome Panel
  • Coenzyme q10 Deficiency Panel
  • Comprehensive Metabolism Panel
  • Congenital and Familial Lipodystrophy Panel
  • Congenital Disorders of Glycosylation (CDG syndrome) Panel
  • Congenital Mono- and Disaccharide Disorders Panel
  • Creatine Metabolism Deficiency Panel
  • Cystinuria Panel
  • Fatty Acid Oxidation Syndrome Panel
  • Glycine encephalopathy Panel
  • Glycogen Storage Disorder Panel
  • Hereditary Hemochromatosis Panel
  • Homocystinuria Core Panel
  • Hyperammonemia and Urea Cycle Disorder Panel
  • Hyperinsulinemic hypoglycemia Panel
  • Hyperphenylalaninemia Panel
  • Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel
  • Hypomagnesemia Panel
  • Lysosomal Disorders Panel
  • Maple Syrup Urine Disease and DLD Deficiency Panel
  • Maturity-onset Diabetes of the Young (MODY) Panel
  • Metabolic Liver Failure Panel
  • Metabolic Myopathy and Rhabdomyolysis Panel
  • Methylmalonic Acidemia Panel 
  • Mitochondrial DNA Depletion Syndrome Panel
  • Molybdenum Cofactor and Sulfite Oxidase Deficiency Panel
  • Monogenic Obesity Panel
  • Mucopolysaccharidosis Panel
  • Nephrolithiasis Panel
  • Nonketotic Hyperglycinemia/Glycine Encephalopathy Panel
  • Organic Acidemia/Aciduria & Cobalamin Deficiency Panel
  • Periodic Paralysis Panel
  • Peroxisomal Disorders Panel
  • Peroxisome Biogenesis Disorders: Zellweger spectrum disorder panel
  • Porphyria Panel
  • Purine and Pyrimidine Metabolism Disorders Panel
  • Pyridoxine- and Folic Acid-dependent epilepsy panel
  • Tyrosinemia Panel
  • Urea Cycle Disorders Panel
Nephrology/Kidney Gene Panels
  • Alport Syndrome Panel
  • Bardet-Biedl Syndrome Panel
  • Bartter Syndrome Panel
  • Branchio-Oto-Renal (BOR) Syndrome Panel
  • C1q Deficiency Panel
  • Ciliopathy Panel
  • Cystic Kidney Disease Panel
  • Diabetes Insipidus Panel
  • Focal segmental glomerulosclerosis panel
  • Hemolytic Uremic Syndrome Panel
  • Hypomagnesemia Panel
  • Hypophosphatemic Rickets Panel
  • Joubert Syndrome Panel
  • Liddle Syndrome Panel
  • Meckel Syndrome Panel
  • Monogenic Obesity Panel
  • Nephrolithiasis Panel
  • Nephronophthisis Panel
  • Nephrotic Syndrome Panel
  • Polycystic Kidney Disease Panel
  • Primary Ciliary Dyskinesia Panel
  • Primary Hyperoxaluria Panel
  • Primary Inherited Aminoacidurias Panel
  • Pseudohypoaldosteronism Panel
  • Renal dysplasia, renal agenesia Panel
  • Renal Malformation Panel
  • Renal Tubular Acidosis Panel
  • Senior-Loken Syndrome Panel
Neurology Gene Panels
  • Amyotrophic Lateral Sclerosis Panel
  • Ataxia Panel
  • Autism Spectrum Disorders Panel
  • Basal Ganglia Calcification
  • Beyond Paediatric Epilepsy panel
  • Cerebral Cavernous Malformation Panel
  • Cerebral Small Vessel Disease Panel
  • Charcot-Marie-Tooth Neuropathy Panel
  • Choreatic Movement Disorders
  • Coenzyme q10 Deficiency Panel
  • Collagen Type VI-Related Disorders Panel
  • Comprehensive Epilepsy Panel
  • Comprehensive Muscular Dystrophy/Myopathy Panel
  • Congenital Myasthenic Syndromes Panel
  • Creatine Metabolism Deficiency Panel
  • Dementia Panel
  • Dystonia Panel
  • Emery-Dreifuss Muscular Dystrophy Panel
  • Epileptic Encephalopathy Panel
  • Heredodegenerative Syndromes Panel
  • Holoprosencephaly Panel
  • Idiopathic Generalized and Focal Epilepsy Panel
  • Leukodystrophy and Leukoencephalopathy Panel
  • LGMD and Congenital Muscular Dystrophy Panel
  • Lissencephaly Panel
  • Macrocephaly/Overgrowth Syndrome Panel
  • Metabolic Epilepsy Panel
  • Metabolic Myopathy and Rhabdomyolysis Panel
  • Microcephaly and Pontocerebellar Hypoplasia Panel
  • Migraine Panel
  • NCL and Progressive Myoclonic Epilepsy Panel
  • Nemaline Myopathy Panel
  • Neurocanthocytosis Panel
  • Neuronal Migration Disorder Panel
  • Neuronal Ceroid Lipofuscinosis Panel
  • Neuro-Ophthalmology Panel
  • Parkinson Disease Panel
  • Paroxysmal Dyskinesia Panel
  • Periodic Paralysis Panel
  • Polymicrogyria Panel
  • Porphyria Panel
  • Primary Torsion Dystonia Panel
  • Septo-Optic Dysplasia Panel
  • Spastic Paraplegia Panel
  • Spinal Muscular Atrophy Panel
  • Tuberous Sclerosis Panel
  • X-linked Intellectual Disability Panel
Neuromuscular Disease Gene Panels
  • Arthrogryposis Panel
  • Congenital and Distal Myopathies Panel
  • Congenital Myasthenic Syndromes Panel
  • Hereditary Neuropathies Panel
  • Limb-Girdle Muscular Dystrophies Panel
  • Metabolic Myopathies Panel
  • Muscular Dystrophies Panel
  • Myotonias Panel
  • Periodic Paralyses Panel
  • Spinal Muscular Atrophies Panel
  • Walker-Warburg Syndrome Panel
Ophthalmology/Eye Gene Panel
  • Achromatopsia Panel
  • Albinism Panel
  • Bardet-Biedl Syndrome Panel
  • Cataract Panel
  • Cone Rod Dystrophy Panel
  • Congenital Stationary Night Blindness Panel
  • Corneal Dystrophy Panel
  • Ectopia Lentis Panel
  • Flecked Retina Disorders Panel
  • Glaucoma Panel
  • Joubert Syndrome Panel
  • Leber Congenital Amaurosis Panel
  • Macular Dystrophy Panel
  • Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel
  • Neuro-Ophthalmology Panel
  • Ocular malformations panel (microphthalmia/anophthalmia/nanophthalmia/ coloboma)
  • Oculocutaneous Albinism Panel
  • Optic Atrophy Panel
  • Retinal Dystrophy Panel
  • Retinitis Pigmentosa Panel
  • Senior-Loken Syndrome Panel
  • Septo-Optic Dysplasia Panel
  • Stargardt disease and macular dystrophies panel
  • Stickler Syndrome Panel
  • Syndromic albinism (Hermansky-Pudlak/Waardenburg/Vici/ Griscelli)
  • Usher Syndrome Panel
  • Vitreoretinopathies (Wagner syndrome/Norrie/Coats)
  • Zellweger syndrome spectrum (Refsum/Zellweger/neonatale adrenoleukodystrophy)
Pulmonology Gene Panels
  • Bronchiectasis Panel
  • Central Hypoventilation and Apnea Panel
  • Comprehensive Pulmonology Panel
  • Cystic Fibrosis Panel
  • Cystic Lung Disease Panel
  • Hermansky-Pudlak Syndrome Panel
  • Interstitial Lung Disease Panel
  • Neonatal Respiratory Distress – Surfactant Dysfunction Panel
  • Primary Ciliary Dyskinesia Panel
  • Pulmonary Artery Hypertension (PAH) Panel
Skeletal Disorders Gene Panels
  • Achondroplasia, Hypochondroplasia, and Pseudoachondroplasia Panel
  • Chondrodysplasia punctate panel
  • Cleidocranial dysplasia and related disorders panel
  • Craniofacial and patellar dysostoses; dysostoses with vertebral and costal inolvement: Klippel-Feil syndrome, Meier-Gorlin syndrome, and related disorders panel
  • Craniosynostosis Panel
  • Hypophosphatemic rickets and related skeletal dysplasias with abnormal mineralization panel
  • Limb malformations: isolated brachydactyly, synostoses, split-hand/foot, polydactyly, syndactyly, and selected genetic syndromes with limb malformations panel
  • Lysosomal storage disorders with skeletal involvement panel
  • Metaphyseal dysplasia panel
  • Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia panel
  • Multiple epiphyseal dysplasia and pseudoachondroplasia panel
  • Multiple exostoses panel
  • Osteogenesis imperfecta and related skeletal dysplasias with decreased bone density panel
  • Osteopetrosis and related skeletal dysplasias with increased bone density panel
  • Potentially lethal skeletal disorders panel
  • Seckel syndrome, 3-M syndrome, Rubinstein–Taybi syndrome, Kabuki syndrome, and further selected genetic syndromes with skeletal involvement panel
  • Short-rib dysplasia panel
  • Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia panel
Mitochondrial DNA Testing - Mitochondriopathies Gene Panels
  • Mitochondrial DNA (mtDNA)–37 Genes
  • Nuclear encoded mitochondrial diseases–359 Genes
  • Leigh syndrome (nuclear genes)
  • Mitochondrial encephalopathy/Mitochondrial Hepato(encephalo)pathy
  • Mitochondrial DNA-depletion and deletion syndromes
  • Pyruvate Metabolism Disorders
  • Combined oxidative phosphorylation deficiency
  • Complex I Deficiency
  • Complex II Deficiency
  • Complex III Deficiency
  • Complex IV Deficiency
  • Complex V Deficiency
  • CoQ10 Deficiency and Acyl-CoA-Dehydrogenase Deficiency
  • Methylglutaconic Aciduria(MGA)
  • MELAS and MERRF syndrome
  • Progressive external ophthalmoplegia(PEO/CPEO)

Material

5 ml EDTA-blood from the patient

Method

High-throughput sequencing

Results

The detected variants are analyzed and evaluated by an experienced team of scientists and geneticists and summarized in a comprehensive medical report.

Preanalytics

Do not freeze.

Please note

Consent form required, previous reports and all available clinical information requested.

Turnaround time

4-6 weeks

Sample Reports

Download Flyer BRCA 1&2

Download Epilepsy Panel

Download Lactase Deficiency Genetic Test

Download Myopathy Panel 

Download SLC2A1 Gene Sequencing 

Download FISH tris21 Test report


Accredited

according to ISO 15189

Lab hours

SAT - THU 9:00 AM to 9:00 PM | FRIDAY : 10:00 AM – 2:00 PM

Key Technical Personnel